Not Crazy: Families Facing Rare Disease Unite

Austin Gray lies in a bed with his sister, Christina Gray. Austin was diagnosed with the rare disease Neurodegenerative Brain Iron Accumulation Disorders as a child and died in 2005, when he was 14.

Courtesy of Dianne Gray

Dianne Gray, who lost her 14-year-old son, Austin, to a rare disease, says fighting an unresearched illness can be an isolating experience for families, and she's trying to do her part to make it easier.

In honor of Sunday's second-annual Rare Disease Day, Gray is speaking out about her family's experience in the hopes it will draw attention to the challenges of rare diseases and help families in similar situations.

"When Austin Gray was 3, he walked into the hallway one night and said, 'Mommy I can't see you,'" said Gray, who lives in Naples, Fla.

Gray thought her little boy was just weary and confused. "Of course you can see Mommy," she reassured him.

"No Mama, where are you?"

Gray said it was "the oh my god, something is horribly wrong here," feeling.

"You just knew it."

Up until that point Austin had seemed completely normal. But then he started to fall down, and his eye sight weakened while none of the answers from doctors added up. Gray quickly realized that he was fighting a rare disease, a fight without a roadmap and without support.

The disease, eventually diagnosed as neurodegenerative brain iron accumulation disorders, slowly took over Austin's body, causing him severe pain and rendering him blind.

Gray volunteers with the National Organization for Rare Diseases to help other families. Sunday will be the second-annual National Rare Disease Day.

The description "rare" is often a misnomer -- although an individual might have a one in a million disease, there are some 7,000 recognized rare diseases.

Add that up, and rare diseases affect 30 million Americans, according to the National Institutes of Health. Yet families say they often feel isolated in a fight for treatment, support and diagnoses.

"You don't have a walk in your area, you don't have a support group unless it's on the Internet," said Gray.

The first time Gray saw a pediatrician about Austin's falls, she remembers the doctor saying, "Take him out of those Keds. You're an overreacting, first-time mother" as if Austin's falls had something to do with his footwear.

Later an eye specialist diagnosed Austin with retinitis pigmentosa and predicted he would go blind before he was an adult. But when Gray joined a parent group for the disease, she found that Austin did not have the same symptoms as those in the group.

Struggling to Find a Diagnosis

"We spoke to other parents who had retinitis pigmentosa, and they said, 'Our kids don't fall down like that,'" Gray recalled.

It took nearly five years of spinal taps, scans and multiple doctor visits before anyone could give Gray an answer. Then Gray's neurologists helped the family get an appointment with a renowned French pediatric neurologist Dr. Jean Aicardi when he came to the United States.

But neither Gray nor the doctors knew when. The disorder slowly took over Austin's ability to move, and as it encroached on his body he experienced severe pain. He also experienced dystonia -- involuntary muscle contraction -- which was so bad doctors suggested cutting out his tongue to save him the pain from biting it involuntarily.